Early detection of malignant and pre-malignant peripheral nerve tumors using cell-free DNA fragmentomics.
R Taylor SundbyJeffrey J SzymanskiAlexander PanPaul A JonesSana Z MahmoodOlivia H ReidDivya SrihariAmy E ArmstrongStacey ChamberlainSanita BurgicKara WeekleyBéga MurraySneh PatelFaridi QaiumAndrea N LucasMargaret FaganAnne DufekChristian F MeyerNatalie B CollinsChristine A PratilasEva DombiAndrea M GrossAe Rang KimJohn S A ChrisingerCarina A DehnerBrigitte C WidemannAngela C HirbeAadel A ChaudhuriJack F ShernPublished in: Clinical cancer research : an official journal of the American Association for Cancer Research (2024)
Novel cfDNA fragmentomic signatures distinguish atypical neurofibromas from benign plexiform neurofibromas and malignant peripheral nerve sheath tumors, enabling more precise clinical diagnosis and management. This study pioneers the early detection of malignant and premalignant peripheral nerve sheath tumors in NF1 and provides a blueprint for de-centralizing non-invasive cancer surveillance in hereditary cancer syndromes.